PR:000000116 hNOG/var:Y222D UniProtKB:Q13253, Tyr-222, CHEBI:29958 | noggin sequence variant 9 (human) "A noggin (human) that has an Asp residue at the position equivalent to Tyr-222 of the amino acid sequence represented by UniProtKB:Q13253. UniProtKB:Q13253, Tyr-222, CHEBI:29958." [PMID:10080184, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050788 proximal symphalangism |
PMID:10080184 |